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Q33594981-0926E4E2-9308-4D17-AD1C-B76032C0CAE2
Q33594981-0926E4E2-9308-4D17-AD1C-B76032C0CAE2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33594981-0926E4E2-9308-4D17-AD1C-B76032C0CAE2
Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.
P2860
Q33594981-0926E4E2-9308-4D17-AD1C-B76032C0CAE2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33594981-0926E4E2-9308-4D17-AD1C-B76032C0CAE2
rank
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type
BestRank
Statement
wasDerivedFrom
c2c0beffc529c7b452972438273df208698f2da9
P2860
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.